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Title
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Short stature, abnormal face, joint laxity, dislocation, hernias, delayed bone age, and severe psychomotor retardation in two brothers: Previously undescribed MCA/MR syndrome
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Author
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Abstract
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| We describe two brothers with severe psychomotor retardation, short stature, micro-brachycephaly, flat occiput, ptosis, low set and prominent ears, "beaked" nose, joint hyperlaxity and dislocation, hernias, delayed bone age, and abnormalities on skin biopsy. Their parents are first cousins. To the best of our knowledge, this syndrome has not been reported before. (C) 2001 Wiley-Liss, Inc. |
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Language
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English
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Source (journal)
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American journal of medical genetics. - New York, N.Y., 1977 - 2002
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Publication
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New York, N.Y.
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2001
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ISSN
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0148-7299
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Volume/pages
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104
:3
(2001)
, p. 221-224
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ISI
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000172353100007
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